ID   ID00078
AC   CVCL_2Z29
DR   Coriell; ID00078
DR   Wikidata; Q54897285
CC   Part of: US Immunodeficiency Network (USIDNET) cell repository.
CC   Sequence variation: Mutation; HGNC; 9831; RAG1; Simple; p.Arg332Ter (c.994C>T); ClinVar=VCV000649706; Zygosity=Heterozygous (Coriell=ID00078).
CC   Sequence variation: Mutation; HGNC; 9831; RAG1; Simple; p.Arg561His (c.1682G>A); ClinVar=VCV000013143; Zygosity=Heterozygous (Coriell=ID00078).
CC   Transformant: NCBI_TaxID; 10381; Saimiriine herpesvirus 2 (Herpesvirus saimiri).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61240; Omenn syndrome
DI   ORDO; Orphanet_39041; Omenn syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10M
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 13
//